Volume 11 Supplement 1

7th Congress of International Society of Systemic Auto-Inflammatory Diseases (ISSAID)

Open Access

P03-007 - Mevalonate kinase gene in Behçet’s disease

  • D Arslan Tas1,
  • E Erken2,
  • F Yıldız1,
  • S Dinkçi1 and
  • H Sakallı3
Pediatric Rheumatology201311(Suppl 1):A202

https://doi.org/10.1186/1546-0096-11-S1-A202

Published: 8 November 2013

Introduction

Genetics is suggested to play role in the development of Behçet’s disease (BD). Shared phenotipic features requires an approach to differential diagnosis from periodic febrile syndromes.

Objectives

We planned to study for mevalonate kinase (MVK) as a candidate for a susceptibility gene for Behçet’s disease.

Methods

Consecutive Behçet patients and apperently healthy subjects were included. Severity score of Behçet disease was calculated. Genotyping of mevalonate kinase gene was done by polymerase chain reaction /sequence-based typing technique.

Results

50 BD patients (median age: 38.30±11.06 years) and 51 controls (median age: 33.88±12.47 years) were recruited. Three types of mutations have found. First: A single nucleotide polymorphism (SNP) c.769-38C>T(rs35191208) in 21 of 50 BD patients and in 15 of 51 controls. Both groups were comparable for the frequency of c.769-38C>T (p>0,05). In all of the cases with c.769-38C>T, a second SNP: c885+24G>A(rs2270374) was also present (previously reported to be in linkage disequilibrium with the first SNP). Third SNP: c.769-7T>G(rs104895331) was found in 3 of 50 BD patients and in 1 of the control group. We found this SNP together with c769-38C>T and c.885+24G>A. The neurological involvement was found to be more frequent in the BD patients with c.769-38 C>T when compared to the BD patients without this polymorphism (p:0,012).

Conclusion

Our results suggested that the effects of MVK mutations in Behçet’s disease could be an additional genetic susceptibility factor for the patients with neurological involvement. However these results need confirmation in larger study populations and in different ethnic groups.

Declarations

Authors’ Affiliations

(1)
Rheumatology-Immunology Department, ADANA
(2)
Cukurova University, Faculty Of Medicine, ADANA
(3)
Internal Medicicne, Medline Hospital, ADANA

Copyright

© Tas et al; licensee BioMed Central Ltd. 2013

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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